A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9971



Internal ID15501197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120158576..120159507hg38UCSC Ensembl
OuterchrX:119292482..119293413hg19UCSC Ensembl
OuterchrX:119176510..119177441hg18UCSC Ensembl
OuterchrX:119074364..119075295hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38932
hg19932
hg18932
hg17932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27477
SamplesNA12155
Known GenesRHOXF2, RHOXF2B
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9971
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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